{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10606553",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.2637G>T (p.Arg879=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=274028[alleleid]",
        "alleleId": 274028,
        "preferredName": "NM_004006.3(DMD):c.2637G>T (p.Arg879=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/289791",
        "RCV": [
          "RCV000369654",
          "RCV001446652"
        ],
        "variationId": 289791
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32503202C>A?assembly=hg19",
        "id": "chrX:g.32503202C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32485085C>A?assembly=hg38",
        "id": "chrX:g.32485085C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886044268",
        "rs": 886044268
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32485085,
          "referenceAllele": "C",
          "start": 32485084
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32485085C>A",
        "CM000685.2:g.32485085C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32503202,
          "referenceAllele": "C",
          "start": 32503201
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32503202C>A",
        "CM000685.1:g.32503202C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32413123,
          "referenceAllele": "C",
          "start": 32413122
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32413123C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 859525,
          "referenceAllele": "G",
          "start": 859524
        }
      ],
      "hgvs": [
        "NG_012232.1:g.859525G>T",
        "LRG_199:g.859525G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2844,
          "referenceAllele": "G",
          "start": 2843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682899.1:n.2844G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2844,
          "referenceAllele": "G",
          "start": 2843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683985.1:n.2844G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2874,
          "referenceAllele": "G",
          "start": 2873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.2637G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Arg879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.2637G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.2637G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Arg879="
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Arg879="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2844,
          "referenceAllele": "G",
          "start": 2843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.2637G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Arg879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2820,
          "referenceAllele": "G",
          "start": 2819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.2625G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Arg875="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 119885,
          "referenceAllele": "G",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 119886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000420596.5:c.94-119886G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399897.1:n.94-119886G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 120374,
          "referenceAllele": "G",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 120375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000448370.5:c.94-120375G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388559.1:n.94-120375G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 268021,
          "referenceAllele": "G",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 268022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.336-268022G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2625,
          "referenceAllele": "G",
          "start": 2624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.2625G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Arg875="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2637,
          "referenceAllele": "G",
          "start": 2636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.2637G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Arg879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2957,
          "referenceAllele": "G",
          "start": 2956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.2613G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Arg871="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2881,
          "referenceAllele": "G",
          "start": 2880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.2637G>T",
        "LRG_199t1:c.2637G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Arg879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829490357",
      "coordinates": [
        {
          "allele": "T",
          "end": 2888,
          "referenceAllele": "G",
          "start": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.2625G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Arg875="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829496056",
      "coordinates": [
        {
          "allele": "T",
          "end": 2971,
          "referenceAllele": "G",
          "start": 2970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.2268G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Arg756="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2834,
          "referenceAllele": "G",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.2637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Arg879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2716,
          "referenceAllele": "G",
          "start": 2715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.2613G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Arg871="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2834,
          "referenceAllele": "G",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.2637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Arg879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2834,
          "referenceAllele": "G",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.2637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Arg879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2705,
          "referenceAllele": "G",
          "start": 2704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.2508G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Arg836="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2834,
          "referenceAllele": "G",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.2637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Arg879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2834,
          "referenceAllele": "G",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.2637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Arg879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2834,
          "referenceAllele": "G",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.2637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Arg879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2834,
          "referenceAllele": "G",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.2637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Arg879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2834,
          "referenceAllele": "G",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.2637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Arg879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2834,
          "referenceAllele": "G",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.2637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Arg879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2808,
          "referenceAllele": "G",
          "start": 2807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.2613G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Arg871="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2834,
          "referenceAllele": "G",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.2637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Arg879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2834,
          "referenceAllele": "G",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.2637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Arg879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2834,
          "referenceAllele": "G",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.2637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Arg879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2834,
          "referenceAllele": "G",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.2637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Arg879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2834,
          "referenceAllele": "G",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.2637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Arg879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2834,
          "referenceAllele": "G",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.2637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Arg879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825071885",
      "coordinates": [
        {
          "allele": "T",
          "end": 2736,
          "referenceAllele": "G",
          "start": 2735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.2613G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Arg871="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829483266",
      "coordinates": [
        {
          "allele": "T",
          "end": 2874,
          "referenceAllele": "G",
          "start": 2873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.2637G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Arg879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.2637G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.2637G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Arg879="
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Arg879="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}